Minhajuddin Ahmed

Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence.

Pycnodysostosis is a rare autosomal recessive disorder whose gene responsible for this phenotype (CTSK), mapped to human chromosome 1q21, code for the enzyme cathepsin K, a lysosomal cysteine protease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.

Nevus lipomatosus cutaneous superficialis resembling rudimentary male external genitalia in a neonate

Nevus lipomatosus cutaneous superficialis (NLCS) is a rare developmental abnormality characterized by group of ectopic fat cells dispersed in collagen bundles of the papillary dermis. Herein we present a case of congeniatal solitary NLCS in the perianal region of a female neonate presented with features of pseudo hermaphrodism which was ruled out by routine investigation. Simple surgical exicision was done and histological examination was suggestive of NLCS.

Anaemia and respiratory failure in a child: can it be idiopathic pulmonary haemosiderosis?

We present an 8-year-old male child admitted with cough and high-grade fever for 7 days and respiratory difficulty for 2 days. There was a history of blood transfusion at 2 years of age during a respiratory illness. The child was anaemic, tachycardic, tachypnoeic and hypoxic at presentation. Chest examination revealed equal air entry with fine crackles bilaterally. Blood reports were suggestive of anaemia (haemoglobin 6.5 g/dL), leucocytosis and high C reactive protein levels. Chest radiograph revealed bilateral air space opacities involving diffuse lung fields, right more than left. Relevant microbiological workup was negative. Based on the clinical scenario and investigations, a provisional diagnosis of pulmonary haemosiderosis was kept. The patient was started on intravenous pulse methylprednisolone. Fibre-optic bronchoscopy was done following recovery from the acute event. Bronchoalveolar lavage demonstrated a significant number of haemosiderin-laden macrophages confirming pulmonary haemosiderosis.

Isolated non-compaction of the left ventricle

Isolated left ventricular non-compaction (LVNC) is a rare congenital disorder caused by failure of normal embryogenesis of the endocardium and myocardium in utero, resulting in prominent ventricular trabeculations with deep intertrabecular recesses. Patients may be asymptomatic or may present with refractory cardiac failure. The best modality of diagnosis is based on echocardiographic diagnostic criteria. Prognosis remains poor for patients with impaired systolic left ventricular function, as treatment options are very limited. We report the case of 2-month-old infant presenting with congestive cardiac failure diagnosed as isolated LVNC on echocardiography.

Empirical use of anti-snake venom in the early morning neuroparalysis

Background: Snake bite is a common acute medical emergency, which can present with atypical symptoms in the pediatric age group. Objective: The objective of the present study is to determine the outcome of patients presenting in the early morning with acute onset of atypical symptoms, no history of snake bite or bite marks be considered as a snake bite and treat with anti-snake venom (ASV) and mechanical ventilation. Materials and Methods: The prospective interventional study conducted over a 6 year period between January 2006 and December 2012 at a Rural Health Center in Maharashtra. Results: Out of 41 patients, 28 (68%) were males and 13 (32%) were females with a mean age of 8.59 ± 3.23 and 8.46 ± 2.96 years, respectively. Patients presented between 12 midnight to 7 a.m. with the maximum presentation between 2 a.m. and 4 a.m. (54%). Patients presented with vague complaints such as abdominal pain (60.97%), unconsciousness (17.07%), vomiting (12.19%) and abnormal sensation over body (7.31%) and convulsion (2.43%). All patients were treated with 15 units of ASV and needed mechanical ventilation within 6 h of admission. Duration of ventilation ranged from 36 h to 168 h with and an average of 115 ± 34.753 h. Hospital stay varied from 5 days to 17 days with a mean of 10.892 ± 3.361 days. All patients responded to treatment and there was 1 (2.43%) death owing to the aspiration pneumonitis. Conclusion: Diagnosis of possible snake bite should strongly be considered when patient presents in the early morning with acute onset of atypical symptoms and without any underlying illness, especially krait bite. The study concludes that timely interventions with a bolus dose of ASV and ventilation can definitely save many lives.

Sirenomelia apus: a rare deformity.

Sirenomelia also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation.